FMR1

Gene Information
 
Gene Symbol
FMR1
 
Aliases
FMRP, FRAXA, POF, POF1
 
Entrez Gene ID
 
Gene Name
Fragile X mental retardation 1
 
Chromosomal Location
Xq27.3
 
HGNC ID
 
Summary
The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. (provided by RefSeq)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0005654 Cellular component Nucleoplasm TAS 10888599
GO:0005730 Cellular component Nucleolus TAS 16407062
GO:0005737 Cellular component Cytoplasm TAS 16407062
GO:0042788 Cellular component Polysomal ribosome TAS 12837692
GO:0003723 Molecular function RNA binding TAS 8156595
Protein Information
 
Protein Name
Fragile X mental retardation protein 1
 
Function
Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C)
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00013 KH_1 KH domain
PF05641 Agenet Agenet domain
PF12235 FXR1P_C Fragile X-related 1 protein C terminal
 
OMIM
 
Phenotype MIM ID
 
Interactions

Associated Diseases

Diseases References
Autoimmune diseases 10941804
Developmental disabilities 11427173, 10341296, 7585014, 8844096
Epilepsy 10424820, 18839028, 12418611, 18832330
Fragile x syndrome 7726157, 10331602, 11814427, 10870330
Hypothyroidism 9254860, 19996900, 15866564
   
References
 
Primary:

FMR1 genotype with autoimmunity-associated polycystic ovary-like phenotype and decreased pregnancy chance.

Gleicher Norbert, Weghofer Andrea, Lee Irene H, Barad David H
Center for Human Reproduction (CHR) and Foundation for Reproductive Medicine, New York, New York, United States of America. ngleicher@thechr.com
PLoS One. 2010 Dec 16;5(12):e15303.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
 
 
Related 
339 (264 normal, 75 PCO-like phenotype) 
A PCO-like phenotype has been identified with strongly associated autoimmunity and specific FMR1 genotype 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
23427231
Hypoandrogenism in association with diminished functional ovarian reserve. 
Clinical study 

 

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